ENSMUSG00000001027


Mus musculus

Features
Gene ID: ENSMUSG00000001027
  
Biological name :Scn4a
  
Synonyms : Scn4a / sodium channel, voltage-gated, type IV, alpha
  
Possible biological names infered from orthology : P35499 / sodium voltage-gated channel alpha subunit 4
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: E1
Gene start: 106318592
Gene end: 106353288
  
Corresponding Affymetrix probe sets: 10392152 (MoGene1.0st)   1450557_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000021056
NCBI entrez gene - 110880     See in Manteia.
MGI - MGI:98250
RefSeq - XM_017314222
RefSeq - NM_133199
RefSeq - XM_006531987
RefSeq Peptide - NP_573462
swissprot - G3X8T7
Ensembl - ENSMUSG00000001027
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 scn4aaENSDARG00000098738Danio rerio
 scn4abENSDARG00000034588Danio rerio
 SCN4AENSGALG00000034427Gallus gallus
 SCN4AENSG00000007314Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Scn2a / sodium channel, voltage-gated, type II, alpha / Q99250* / sodium voltage-gated channel alpha subunit 2*ENSMUSG0000007531871
Scn1a / A2APX8 / Sodium channel protein type 1 subunit alpha / P35498* / sodium voltage-gated channel alpha subunit 1*ENSMUSG0000006432970
Scn3a / sodium channel, voltage-gated, type III, alpha / Q9NY46* / sodium voltage-gated channel alpha subunit 3*ENSMUSG0000005718269
Scn8a / sodium channel, voltage-gated, type VIII, alpha / Q9UQD0* / sodium voltage-gated channel alpha subunit 8*ENSMUSG0000002303368
Scn9a / Q62205 / Sodium channel protein type 9 subunit alpha / Q15858* / sodium voltage-gated channel alpha subunit 9*ENSMUSG0000007531667
Scn5a / Q9JJV9 / Sodium channel protein type 5 subunit alpha / Q14524* / sodium voltage-gated channel alpha subunit 5*ENSMUSG0000003251165
Q6QIY3 / Scn10a / sodium channel, voltage-gated, type X, alpha / Q9Y5Y9* / sodium voltage-gated channel alpha subunit 10*ENSMUSG0000003453356
Q9R053 / Scn11a / Sodium channel protein type 11 subunit alpha / Q9UI33* / sodium voltage-gated channel alpha subunit 11*ENSMUSG0000003411547
Scn7a / sodium voltage-gated channel alpha subunit 7 / Q01118*ENSMUSG0000003481043
Cacna1h / voltage-dependent T-type calcium channel subunit alpha-1H isoform 2 / O95180* / calcium voltage-gated channel subunit alpha1 H*ENSMUSG0000002411225
Cacna1g / calcium channel, voltage-dependent, T type, alpha 1G subunit / O43497* / calcium voltage-gated channel subunit alpha1 G*ENSMUSG0000002086624
Cacna1i / calcium channel, voltage-dependent, alpha 1I subunit / Q9P0X4* / calcium voltage-gated channel subunit alpha1 I*ENSMUSG0000002241624


Protein motifs (from Interpro)
Interpro ID Name
 IPR000048  IQ motif, EF-hand binding site
 IPR001696  Voltage gated sodium channel, alpha subunit
 IPR005821  Ion transport domain
 IPR008052  Voltage gated sodium channel, alpha-4 subunit, mammalian
 IPR010526  Sodium ion transport-associated


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0001518 voltage-gated sodium channel complex IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity IEA
 molecular_functionGO:0005272 sodium channel activity IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Phase 0 - rapid depolarisation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Acantm1(cre/ERT2)Crm/Acantm1(cre/ERT2)Crm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Scn4atm1Ljh/Scn4atm1Ljh
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1.1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1.1Ljh

Allelic Composition: Scn4atm1.1Cann/Scn4atm1.1Cann
Genetic Background: involves: 129

Allelic Composition: Scn4atm1.1Cann/Scn4a+
Genetic Background: involves: 129

 MP:0000751 myopathy "any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]
Show

Allelic Composition: Acantm1(cre/ERT2)Crm/Acantm1(cre/ERT2)Crm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Scn4atm1Ljh/Scn4atm1Ljh
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1.1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1.1Ljh

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Acantm1(cre/ERT2)Crm/Acantm1(cre/ERT2)Crm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Scn4atm1Ljh/Scn4atm1Ljh
Genetic Background: B6.129S4-Scn4atm1Ljh

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Acantm1(cre/ERT2)Crm/Acantm1(cre/ERT2)Crm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Scn4atm1Ljh/Scn4atm1Ljh
Genetic Background: B6.129S4-Scn4atm1Ljh

 MP:0001515 abnormal grip strength "altered ability to grasp and hold objects, usually measured as time spent hanging from an object or wire" [J:80661]
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Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0001942 abnormal lung volume "anomaly in the amount of air that the lungs contain at various points of the respiratory cycle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

Allelic Composition: Scn4am1Aaa/Scn4atm1.1Ljh
Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6J

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
Show

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

Allelic Composition: Scn4am1Aaa/Scn4atm1.1Ljh
Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6J

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scn4atm1Ljh/Scn4atm1Ljh
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1.1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1.1Ljh

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0002108 abnormal muscle morphology "abnormal development of muscle tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gnai2tm2.1Rneu/Gnai2tm2.1Rneu,Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
Genetic Background: B6.Cg-Gt(ROSA)26Sortm1(cre/ert2)Tyj Gnai2tm2.1Rneu

 MP:0002690 akinesia "absence of movement or loss of the ability to move such as temporary or prolonged paralysis or "freezing in place"" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:82238]
Show

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scn4atm1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1.1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1.1Ljh

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0002966 decreased circulating alkaline phosphatase level "reduced activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Scarb1tm1b(EUCOMM)Wtsi/Scarb1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Scarb1tm1b(EUCOMM)Wtsi/Bay

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Acantm1(cre/ERT2)Crm/Acantm1(cre/ERT2)Crm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Scn4atm1Ljh/Scn4atm1Ljh
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1.1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1.1Ljh

 MP:0003157 impaired muscle relaxation "reduced or absent ability of muscle to lengthen following contractions" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92510]
Show

Allelic Composition: Scn4atm1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1.1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1.1Ljh

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0003646 muscle fatigue "increased muscle exhaustion or increased susceptibility to muscle exhaustion" [J:96306]
Show

Allelic Composition: Scn4atm1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1.1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1.1Ljh

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0004037 increased muscle relaxation "greater than the normal ability of the muscle to lengthen following contractions or increase in the ability of the muscle to lengthen following contractions" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Scn4atm1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1.1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1.1Ljh

 MP:0004087 abnormal muscle fiber morphology "malformed or poorly developed muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scn4atm1.1Cann/Scn4atm1.1Cann
Genetic Background: involves: 129

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0004145 abnormal muscle electrophysiology "anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0004889 increased energy expenditure "increase in the number of calories used per unit time or decrease in weight gain for a given amount of food eaten" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0005292 improved glucose tolerance "better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0005620 abnormal muscle contractility "aberrant ability of a muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Scn4atm1.1Cann/Scn4atm1.1Cann
Genetic Background: involves: 129

 MP:0005668 decreased circulating leptin level "less than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, J:34751]
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Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Acantm1(cre/ERT2)Crm/Acantm1(cre/ERT2)Crm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Scn4atm1Ljh/Scn4atm1Ljh
Genetic Background: B6.129S4-Scn4atm1Ljh

 MP:0009046 muscle twitch "minor, sometimes imperceptible, local muscle contractions or uncontrollable movement of a single muscle group served by a single motor nerve fiber or filament sometime, but not always, indicating a neurological disorder" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0009399 increased skeletal muscle fiber size "increase in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Acantm1(cre/ERT2)Crm/Acantm1(cre/ERT2)Crm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Scn4atm1Ljh/Scn4atm1Ljh
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1Ljh

Allelic Composition: Scn4atm1.1Ljh/Scn4a+
Genetic Background: B6.129S4-Scn4atm1.1Ljh

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0009417 skeletal muscle atrophy "a wasting of skeletal muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Acantm1(cre/ERT2)Crm/Acantm1(cre/ERT2)Crm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Scn4atm1Ljh/Scn4atm1Ljh
Genetic Background: B6.129S4-Scn4atm1Ljh

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Scn4am1Aaa/Scn4a+
Genetic Background: involves: BALB/c * C57BL/6J

Allelic Composition: Scn4am1Aaa/Scn4atm1.1Ljh
Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6J

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Acantm1(cre/ERT2)Crm/Acantm1(cre/ERT2)Crm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Scn4atm1Ljh/Scn4atm1Ljh
Genetic Background: B6.129S4-Scn4atm1Ljh

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Scarb1tm1b(EUCOMM)Wtsi/Scarb1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Scarb1tm1b(EUCOMM)Wtsi/Bay

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Scarb1tm1b(EUCOMM)Wtsi/Scarb1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Scarb1tm1b(EUCOMM)Wtsi/Bay

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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